Table 2 Integrating precision cancer medicine into healthcare—key challenges and opportunities
From: Integrating precision cancer medicine into healthcare—policy, practice, and research challenges
Area | Challenge | Opportunity |
|---|---|---|
Medical Practice | ||
Detection | Many cancers diagnosed too late | Liquid biopsies |
Turnaround time | Time from sample collection to clinically actionable result often too long | Optimization of sample collection and data analysis pipelines |
Treatment | Limited efficiency of targeted treatments | Research on resistance mechanisms and tumor heterogeneity, and use of combined targeted and immune therapy |
New standards needed | ||
Publication and implementation of clinical guidelines | Multiple partly overlapping guidelines published, poor international and inter-sectorial operability | Collaborations between agencies such as the FDA, the EMA, Health Canada, and the NHS. Implementation projects (IGNITE and others) |
Sample collection | Current gold standard (FFPE) suboptimal for genomic data analysis. | Standardization and implementation of new cancer sample collection strategies (for example, fresh frozen) to maximize quality, quantity, and purity of tumor cells. |
Sample preparation and analysis | Suboptimal DNA extraction, library preparation, and sequencing protocols for molecular testing of cancer samples | Implementation of new standards to counteract unavoidable cancer sample limitations (low quality, quantity and purity, high heterogeneity) |
Cancer genomic data analysis | Current bioinformatics pipelines and software suboptimal for the identification of actionable cancer mutations | Development and clinical validation of bioinformatics tools and pipelines for a thorough molecular analysis of tumor samples (including main and subclonal mutations, and cellular context) |
Cancer genomic data sharing | Genetic diversity of the general population and cancer patients poorly represented in current publically available databases. | Development of improved and curated cancer-specific and population databases |
Widely variable data sharing policies among clinical institutions and research projects | Alignment of international policies on cancer patients’ data sharing | |
Clinical trials and compound registration fragmented and patchy | Improve databases of approved compounds and international clinical trial registries | |
Test selection | Widely variable genetic testing practices for similar cancer patients across clinical institutions | Production of clinical guidelines on genetic test selection (single gene/gene panel/whole exome/whole-genome sequencing) |
Clinical trials and cost of drugs | Classical clinical trial designs (large and diverse patient populations) inappropriate to test targeted therapies | New clinical trial designs: drug repositioning tests, ‘n-of-one’ trials, rotation therapies |
Cost-effectiveness of targeted therapies widely contested | Thorough examination of cost-effectiveness of cancer genomic medicines, taking into account new clinical trial designs | |
Intervention endpoints | Traditional endpoints and measures (QALYs) ill-adapted to personalized medicine interventions | Renewed, more holistic intervention endpoints, including patient experience, societal preferences, and values |
Policy, ethical and legal norms | Border between research and healthcare increasingly porous | Development of adapted, international and interoperable ethical and legal norms (GA4GH, P3G) |
Higher uncertainty associated with the clinical significance of genomic information | ||
Tension between international research endeavors and national healthcare systems | ||
Pre-implementation research needed | ||
Identify priorities | Need for a systematic identification of unresolved scientific questions | International conferences and expert reviews in PCM |
Non-genetic aspects of cancer | A number of elements still poorly understood • Environmental factors • Behavioral factors • Social determinants of cancer incidence and survival | Support for targeted research in those domains, while continuing efforts to reduce known factors leading to increased cancer incidence and prevalence (smoking, alcohol consumption, and social deprivation) |